Woodhouse-Sakati sendromu
Kalıtsal - AR
Hipogonadizm (kızlarda amenore, kız ve erkeklerde sekonder cinsiyet karakterlerinin yokluğu)
“Insulin-like growth factor 1 (IGF-1)” eksikliği
Diabetes mellitus (tip 2)
Hiperlipidemi
Hipotiroidizm
Alopesi (saç ve kaşların tam dökülmesi)
Deride erken yaşlanma
Yüz üçgen biçiminde
Edinsel hipodonti (diş kaybı)
Yutma güçlüğü
Gelişme geriliği
Psikomotor gerilik
Nörolojik bozukluklar
Konuşma-İşitme sorunları
Zeka geriliği
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Al-Semari A, Bohlega S. Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. American Journal of Medical Genetics A, 143A:149–160, 2007
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Medica I, Sepcic J, Peterlin B. Woodhouse-Sakati syndrome: case report and symptoms review. Genetic Counseling, 18: 227-231, 2007
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Alazami AM, Schneider SA, Bonneau D, et al. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clinical Genetics, 78: 585-590, 2010
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Steindl K, Alazami AM, Bhatia KP, et al. A novel C2orf37 mutation causes the first Italian cases of Woodhouse-Sakati syndrome. Clinical Genetics, 78:594–597, 2010
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Agopiantz M, Corbonnois P, Sorlin A, et al. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. Journal of Endocrinological Investigation, 37:1–7, 2014